Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs115716690
rs115716690
KCNJ11
1.000 0.080 11 17387902 missense variant C/A snv 4.8E-05 9.8E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs193929375
rs193929375
GCK
0.882 0.120 7 44145560 missense variant C/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 0
dbSNP: rs200563930
rs200563930
ABCC8
1.000 0.080 11 17397205 missense variant C/T snv 1.6E-04 5.6E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs794727236
rs794727236
GCK
1.000 0.080 7 44153391 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs104894008
rs104894008
GCK ; LOC105375258
0.882 0.080 7 44147732 missense variant C/G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs1286804191
rs1286804191
GCK
0.925 0.080 7 44145212 missense variant G/A snv 4.1E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs1486280029
rs1486280029
GCK
1.000 0.080 7 44153382 missense variant G/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs193922282
rs193922282
GCK
0.925 0.080 7 44145189 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs193922289
rs193922289
GCK
0.882 0.080 7 44152420 missense variant C/T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs80356654
rs80356654
GCK ; LOC105375258
0.925 0.080 7 44149810 missense variant A/G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2001 2014
dbSNP: rs80356655
rs80356655
GCK ; LOC105375258
0.925 0.080 7 44147830 missense variant G/A snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2001 2014
dbSNP: rs193929333
rs193929333
KCNJ11
1.000 0.080 11 17387989 missense variant A/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs193929337
rs193929337
KCNJ11
0.827 0.160 11 17387937 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs193929353
rs193929353
KCNJ11
0.882 0.120 11 17387206 missense variant T/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs387906783
rs387906783
KCNJ11
0.925 0.160 11 17387913 missense variant A/G;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 13 2004 2017
dbSNP: rs80356611
rs80356611
KCNJ11
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs80356615
rs80356615
KCNJ11
0.851 0.240 11 17387934 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356616
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356617
rs80356617
KCNJ11
0.882 0.160 11 17387916 missense variant A/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs80356618
rs80356618
KCNJ11
0.807 0.200 11 17387595 missense variant C/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs80356620
rs80356620
KCNJ11
0.882 0.160 11 17387593 missense variant T/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356621
rs80356621
KCNJ11
1.000 0.080 11 17387583 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356622
rs80356622
KCNJ11
1.000 0.080 11 17387582 missense variant C/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356624
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs80356625
rs80356625
KCNJ11
0.827 0.280 11 17387491 missense variant G/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017